High rates of three common GJB2 mutations c.516g>c, c.-23+1g>a, c.235delc in deaf patients from southern siberia are due to the founder effect

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High rates of three common GJB2 mutations c.516g>c, c.-23+1g>a, c.235delc in deaf patients from southern siberia are due to the founder effect. / Zytsar, Marina V.; Bady-Khoo, Marita S.; Danilchenko, Valeriia Yu et al.

In: Genes, Vol. 11, No. 7, 833, 01.07.2020, p. 1-17.

Research output: Contribution to journal › Article › peer-review

BibTeX

@article{6cdfa83160d44085a1b62aeb3dd22326,

title = "High rates of three common GJB2 mutations c.516g>c, c.-23+1g>a, c.235delc in deaf patients from southern siberia are due to the founder effect",

abstract = "The mutations in the GJB2 gene (13q12.11, MIM 121011) encoding transmembrane protein connexin 26 (Cx26) account for a significant portion of hereditary hearing loss worldwide. Earlier we found a high prevalence of recessive GJB2 mutations c.516G>C, c.-23+1G>A, c.235delC in indigenous Turkic-speaking Siberian peoples (Tuvinians and Altaians) from the Tyva Republic and Altai Republic (Southern Siberia, Russia) and proposed the founder effect as a cause for their high rates in these populations. To reconstruct the haplotypes associated with each of these mutations, the genotyping of polymorphic genetic markers both within and flanking the GJB2 gene was performed in 28 unrelated individuals homozygous for c.516G>C (n = 18), c.-23+1G>A (n = 6), or c.235delC (n = 4) as well as in the ethnically matched controls (62 Tuvinians and 55 Altaians) without these mutations. The common haplotypes specific for mutations c.516G>C, c.-23+1G>A, or c.235delC were revealed implying a single origin of each of these mutations. The age of mutations estimated by the DMLE+ v2.3 software and the single marker method is discussed in relation to ethnic history of Tuvinians and Altaians. The data obtained in this study support a crucial role of the founder effect in the high prevalence of GJB2 mutations c.516G>C, c.-23+1G>A, c.235delC in indigenous populations of Southern Siberia.",

keywords = "Altaians, Founder effect, GJB2, Hearing loss, Mutation age, Southern Siberia, STR and SNP haplotypes, Tuvinians",

author = "Zytsar, {Marina V.} and Bady-Khoo, {Marita S.} and Danilchenko, {Valeriia Yu} and Maslova, {Ekaterina A.} and Barashkov, {Nikolay A.} and Morozov, {Igor V.} and Bondar, {Alexander A.} and Posukh, {Olga L.}",

note = "Funding Information: This work was supported by the Budget Projects of Institute of Cytology and Genetics SB RAS:#0324-2019-0041 (to O.L.P.), #0259-2019-0009 (to M.V.Z. and V.Y.D.); by the Project of the Ministry of Science and Higher Education of the Russian Federation (basic part of funding to M.K. Ammosov North-Eastern Federal University #FSRG-2020-0016) (to N.A.B.); by the RFBR grants:#17-29-06016_ofi_m (to O.L.P., M.V.Z., M.S.B.-K., V.Y.D., E.A.M., N.A.B., A.A.B., I.V.M), #18-34-00166_mol-a (to M.V.Z., V.Y.D., E.A.M.), and #18-05-600035_Arctika, #18-015-00212_A, #20-015-00328_A (to N.A.B.). The authors are sincerely grateful to all participants of the study. We also wish to acknowledge Vladimir Babenko for his help in the data analysis. Publisher Copyright: {\textcopyright} 2020 by the authors. Licensee MDPI, Basel, Switzerland.",

year = "2020",

month = jul,

day = "1",

doi = "10.3390/genes11070833",

language = "English",

volume = "11",

pages = "1--17",

journal = "Genes",

issn = "2073-4425",

publisher = "Multidisciplinary Digital Publishing Institute (MDPI)",

number = "7",

}

RIS

TY - JOUR

T1 - High rates of three common GJB2 mutations c.516g>c, c.-23+1g>a, c.235delc in deaf patients from southern siberia are due to the founder effect

AU - Zytsar, Marina V.

AU - Bady-Khoo, Marita S.

AU - Danilchenko, Valeriia Yu

AU - Maslova, Ekaterina A.

AU - Barashkov, Nikolay A.

AU - Morozov, Igor V.

AU - Bondar, Alexander A.

AU - Posukh, Olga L.

N1 - Funding Information: This work was supported by the Budget Projects of Institute of Cytology and Genetics SB RAS:#0324-2019-0041 (to O.L.P.), #0259-2019-0009 (to M.V.Z. and V.Y.D.); by the Project of the Ministry of Science and Higher Education of the Russian Federation (basic part of funding to M.K. Ammosov North-Eastern Federal University #FSRG-2020-0016) (to N.A.B.); by the RFBR grants:#17-29-06016_ofi_m (to O.L.P., M.V.Z., M.S.B.-K., V.Y.D., E.A.M., N.A.B., A.A.B., I.V.M), #18-34-00166_mol-a (to M.V.Z., V.Y.D., E.A.M.), and #18-05-600035_Arctika, #18-015-00212_A, #20-015-00328_A (to N.A.B.). The authors are sincerely grateful to all participants of the study. We also wish to acknowledge Vladimir Babenko for his help in the data analysis. Publisher Copyright: © 2020 by the authors. Licensee MDPI, Basel, Switzerland.

PY - 2020/7/1

Y1 - 2020/7/1

N2 - The mutations in the GJB2 gene (13q12.11, MIM 121011) encoding transmembrane protein connexin 26 (Cx26) account for a significant portion of hereditary hearing loss worldwide. Earlier we found a high prevalence of recessive GJB2 mutations c.516G>C, c.-23+1G>A, c.235delC in indigenous Turkic-speaking Siberian peoples (Tuvinians and Altaians) from the Tyva Republic and Altai Republic (Southern Siberia, Russia) and proposed the founder effect as a cause for their high rates in these populations. To reconstruct the haplotypes associated with each of these mutations, the genotyping of polymorphic genetic markers both within and flanking the GJB2 gene was performed in 28 unrelated individuals homozygous for c.516G>C (n = 18), c.-23+1G>A (n = 6), or c.235delC (n = 4) as well as in the ethnically matched controls (62 Tuvinians and 55 Altaians) without these mutations. The common haplotypes specific for mutations c.516G>C, c.-23+1G>A, or c.235delC were revealed implying a single origin of each of these mutations. The age of mutations estimated by the DMLE+ v2.3 software and the single marker method is discussed in relation to ethnic history of Tuvinians and Altaians. The data obtained in this study support a crucial role of the founder effect in the high prevalence of GJB2 mutations c.516G>C, c.-23+1G>A, c.235delC in indigenous populations of Southern Siberia.

AB - The mutations in the GJB2 gene (13q12.11, MIM 121011) encoding transmembrane protein connexin 26 (Cx26) account for a significant portion of hereditary hearing loss worldwide. Earlier we found a high prevalence of recessive GJB2 mutations c.516G>C, c.-23+1G>A, c.235delC in indigenous Turkic-speaking Siberian peoples (Tuvinians and Altaians) from the Tyva Republic and Altai Republic (Southern Siberia, Russia) and proposed the founder effect as a cause for their high rates in these populations. To reconstruct the haplotypes associated with each of these mutations, the genotyping of polymorphic genetic markers both within and flanking the GJB2 gene was performed in 28 unrelated individuals homozygous for c.516G>C (n = 18), c.-23+1G>A (n = 6), or c.235delC (n = 4) as well as in the ethnically matched controls (62 Tuvinians and 55 Altaians) without these mutations. The common haplotypes specific for mutations c.516G>C, c.-23+1G>A, or c.235delC were revealed implying a single origin of each of these mutations. The age of mutations estimated by the DMLE+ v2.3 software and the single marker method is discussed in relation to ethnic history of Tuvinians and Altaians. The data obtained in this study support a crucial role of the founder effect in the high prevalence of GJB2 mutations c.516G>C, c.-23+1G>A, c.235delC in indigenous populations of Southern Siberia.

KW - Altaians

KW - Founder effect

KW - GJB2

KW - Hearing loss

KW - Mutation age

KW - Southern Siberia

KW - STR and SNP haplotypes

KW - Tuvinians

UR - http://www.scopus.com/inward/record.url?scp=85088266686&partnerID=8YFLogxK

U2 - 10.3390/genes11070833

DO - 10.3390/genes11070833

M3 - Article

C2 - 32708339

AN - SCOPUS:85088266686

VL - 11

SP - 1

EP - 17

JO - Genes

JF - Genes

SN - 2073-4425

IS - 7

M1 - 833

ER -

ID: 24784058